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Diagnostic Criteria for Myeloid Neoplasms with Myelodysplasia

Myelodysplastic syndromes (MDS) are myeloid neoplasms characterized by clonal proliferation of hematopoietic stem cells, recurrent genetic abnormalities, myelodysplasia, ineffective hematopoiesis, peripheral-blood cytopenia, and a high risk of evolution to acute myeloid leukemia (AML).

Diagnostic Criteria for Myeloid Neoplasms with Myelodysplasia and Precursor Conditions for Myelodysplastic syndromes red 5px solid(MDS)

Disorder Diagnostic Criteria
Myeloid neoplasms with myelodysplasia
MDS Persistent cytopenia in one or more peripheral-blood cell lineages and morphologic dysplasia (≥10% dysplastic cells) in one or more bone marrow cell lineages; on the basis of morphologic and cytogenetic abnormalities, MDS are categorized into the following subtypes:
MDS with single-lineage dysplasia
MDS with multilineage dysplasia
MDS with ring sideroblasts and single-lineage dysplasia or multilineage dysplasia
MDS with isolated del(5q)
MDS with excess blasts type 1 or type 2
MDS, unclassifiable
Myelodysplastic–myeloproliferative neoplasms Myeloid neoplasms with clinical, laboratory, and morphologic features that overlap those of MDS and myeloproliferative neoplasms; myelodysplastic–myeloproliferative neoplasms are divided into the following subtypes:
Chronic myelomonocytic leukemia
BCR-ABL1–negative atypical chronic myeloid leukemia
Myelodysplastic–myeloproliferative neoplasm with ring sideroblasts and thrombocytosis
Juvenile myelomonocytic leukemia
Therapy-related myeloid neoplasms MDS, myelodysplastic–myeloproliferative neoplasms, and acute myeloid leukemia that occur as late complications of chemotherapy or radiotherapy
MDS precursor conditions
Clonal Hematopoiesis of Indeterminate Potential (CHIP) Normal peripheral-blood cell counts with a somatic mutation, at a variant allele frequency of at least 2%, in a gene that is recurrently mutated in myeloid neoplasms‡
Clonal Cytopenia of Undetermined Significance (CCUS) Unexplained cytopenia in one or more peripheral-blood cell lineages; a somatic mutation, at a variant allele frequency of at least 20%, in one or more genes that are recurrently mutated in myeloid neoplasms; and insufficient WHO criteria for a diagnosis of MDS, essentially because of lack of overt dysplasia (<10% dysplastic cells in any bone marrow cell lineage), excess blasts, and MDS-defining chromosomal abnor-malities §

‡ Persons with CHIP may have increased values for red-cell distribution width.
§ Although a variant allele frequency of at least 2% was initially suggested for the diagnosis of CCUS, the available evidence indicates that a higher cutoff point (20%) should be used to identify clinically significant clonality.

 

References:

  1. Cazzola M. Myelodysplastic Syndromes. N Engl J Med. 2020 Oct 1;383(14):1358-1374. [Medline]
  2. Shreve J, Nazha A. Novel Prognostic Models for Myelodysplastic Syndromes. Hematol Oncol Clin North Am. 2020 Apr;34(2):369-378. [Medline]

 

Created Nov 26, 2020.

 

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